NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population

Life Sci. 2012 Jul 26;91(1-2):37-43. doi: 10.1016/j.lfs.2012.06.010. Epub 2012 Jun 20.

Abstract

Aims: To test the genetic association of NR3C1 gene which encodes the glucocorticoid receptor with infantile spasms (IS).

Main methods: Nine single nucleotide polymorphisms (SNPs) within the NR3C1 gene were genotyped in a sample set of 128 cases and 131 controls. Association analysis was performed on the genotyped data.

Key findings: Two SNPs, rs10482672 and rs2963155, showed nominal associations with IS (P=0.018, OR=1.89, 95% CI=1.11-3.22, for rs10482672; P=0.04, OR=1.70, 95% CI=1.03-2.81 for rs2963155) under the assumption of a dominant model. The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60). The rs6866893 was also associated with the responsiveness of adrenocorticotropic hormone.

Significance: The current experimental results suggest the importance of the NR3C1 gene polymorphism for genetic susceptibility to IS in a Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenocorticotropic Hormone / therapeutic use
  • Asian People / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Hormones / therapeutic use
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Polymorphism, Single Nucleotide*
  • Receptors, Glucocorticoid / genetics*
  • Spasms, Infantile / drug therapy
  • Spasms, Infantile / genetics*

Substances

  • Hormones
  • NR3C1 protein, human
  • Receptors, Glucocorticoid
  • Adrenocorticotropic Hormone